Articles with "suffering hypophosphatasia" as a keyword



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The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces

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Published in 2022 at "Diagnostics"

DOI: 10.3390/diagnostics12040865

Abstract: Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene. Low activity of the alkaline phosphatase (ALP) impairs the hydroxyapatite formation,… read more here.

Keywords: suffering hypophosphatasia; patients suffering; disease; picture patients ... See more keywords